21 The New Journal of Medicine 2014;31:21-24 2ULJLQDO DUWLFOH 7KH ,QYHVWLJDWLRQ RI 'LVWULEXWLRQ RI +HUHGLWDU\ %HWD± 7KDODVVHPLD 0XWDWLRQV LQ DQG 5HJLRQ RI ,VSDUWD (Isparta ve çevresindeki Beta-talasemi kalÕtsal mutasyonlarÕnÕn da÷ÕlÕmÕnÕn araútÕrÕlmasÕ) Medine Cumhur CÜRE 1 , Recep SÜTÇÜ 2 , Erkan CÜRE 3 , NamÕk DELøBAù 4 , Duran CANADAN 5 1 Recep Tayyip Erdogan University School of Medicine Department of Biochemistry, RøZE 2 Katip Celebi University School of Medicine Department of Biochemistry, øZMøR 3 Recep Tayyip Erdogan University School of Medicine Department of Internal Medicine, RøZE 4 Hacettepe University School of Medicine Department of Biochemistry, ANKARA 5 Suleyman Demirel University School of Medicine Department of Pediatric Hematology, ISPARTA ÖZET Amaç: Beta (ǃ)-talasemi dünya çapÕnda en yaygÕn genetik hastalÕklardan biridir. Bu hastalÕk otozomal resesif olarak kalÕtÕlÕr. ǃ talasemi hemolitik anemi ile presente olan Türkiye’deki en yaygÕn genetik hastalÕktÕr. ǃ-talasemi major ve taúÕyÕcÕ olan hastalarÕn mutasyon da÷ÕlÕmlarÕnÕ incelemeyi amaçladÕk. Materyal ve Metot: ÇalÕsmaya dahil edilen transfüzyon ba÷ÕmlÕ 64 ǃ-talasemi majör hastasÕ Süleyman Demirel Üniversitesi Hastanesi Çocuk Hematoloji Poliklini÷i’ne baúvuran hastalardan, 27 ǃ-talasemi taúÕyÕcÕsÕ Süleyman Demirel Üniversitesi Hastanesi Biyokimya LaboratuarÕ’na evlilik öncesi talasemi taramasÕ yaptÕrmak için baúvuran kiúilerden seçildi. ǃ-talasemi taúÕyÕcÕlarÕnda çalÕúmaya dahil edilme kriteri olarak HbA 2 düzeyinin %3,5’in üze- rinde olmasÕ dikkate alÕndÕ. Bulgular: AraútÕrmamÕza dahil edilen 91 katÕlÕmcÕdan, 27’si (%29,7) heterozigot, 36’sÕ (%39,6) homozigot ve 28’inin (%30,8) birleúik heterozigot formunda mutant allel taúÕdÕ÷Õ tespit edildi. Elde etti÷imiz sonuçlara göre, Isparta ve çevresinde en yaygÕn görülen ǃ-talasemi mutasyonu IVS1–110 (%60) olarak bulundu. Sonuçlar: ÇalÕúmamÕzdaki veriler tanÕ koyma ve tedavi planlamada klinisyene yardÕmcÕ olabilir ve ülkemizin talasemi haritasÕnÕn belirlenmesinde katkÕda bulunabilir. Genetik danÕúmanlÕk esnasÕnda moleküler patolojinin bilinmesi sayesinde kiúiye açÕk ve güvenilir bilgiler verile- bilir, çocuk sahibi olma kararlarÕnda alÕnabilecek erken önlemlerle tÕbbi abortuslarÕn uygulanma gereklili÷i ve hasta çocuk do÷ma riski azaltÕlabilir. Anahtar Kelimeler: ǃ-Talasemi; Isparta; Türkiye; mutas- yon; IVS1-110 ABSTRACT Background: Beta (ǃ)-thalassemia is the most widespread genetic disease worldwide that is inherited as an autosomal recessive disease. It is characterized by hemolytic anemia and is the most common genetic disease in Turkey. We investigated the distribution of mutations in patients with ǃ-thalassemia major and patients who are ǃ-thalassemia carriers. Material and Methods: A total of 64 patients with transfusion-dependent ǃ-thalassemia major who were admitted to the Pediatric Hematology outpatient clinic of Suleyman Demirel University, Isparta, Turkey and 27 patients who are ǃ-thalassemia carriers and were admitted to the Biochemistry Laboratory of Suleyman Demirel University for screening before marriage were included. The inclusion criterion of ǃ-thalassemia carriers was a hemoglobin A 2 level greater than 3.5%. Results: Of the 91 participants, 27 (29.7%) were heterozygotes, 36 (39.6%) were homozygotes, and 28 (30.8%) were detected as carrying the compound heterozygous form of the mutant allele. The most common ǃ-thalassemia mutation was IVS1-110 (60%) in Isparta and the surrounding region. Conclusions: Our results may help clinicians diagnose and plan treatment and may also help map thalassemia occurrence in Turkey. With such knowledge on molecular pathology, obvious and credible information can be provided to individuals during genetic consultations, including the necessity of medical abortus and early precautions regarding having a child, such as the risk of ill child birth. Key Words: ǃ-thalassemia; Isparta; IVS1-110; mutation; Turkey INTRODUCTION Beta (ǃ)-thalassemia is the most widespread autosomal recessive hereditary disease, and it is characterized by reduced (ǃ + ) or no (ǃ 0 ) ǃ globin chain synthesis 1–4 . Clinical appearances of this disorder include microcytosis and hemolytic anemia that requires regular blood transfusion 2 . Correspondence: Medine Cumhur CÜRE M.D. Recep Tayyip Erdogan University, Department of Biochemistry, Rize e-mail: medinecure@yahoo.com Arrival date : 05.02.2013 Acceptance date : 20.05.2013 The disorder can lead to irreversible damage to organs and tissues due to iron accumulation. The disease arises from mutations in the ǃ globin gene, which encodes a substantial protein component of hemoglobin (hb) A 4 . Molecular analyses of ǃ- thalassemia mutations have been applied using polymerase chain reaction (PCR)-based procedures mainly for diagnostic needs 5 . To date, more than 200 mutations affecting different levels of ǃ globin gene expression have been determined 1,4 . The incidence of thalassemia mutations is higher in Mediterranean countries, tropical Africa,